EPCAM (P16422) variants and mutations

EPCAM (also known as P16422) is a human protein-coding gene encoding an epithelial cell adhesion molecule protein. It supports epithelial organization and signaling at cell-cell interfaces. Deletions extending through its 3-prime end can silence neighboring MSH2 and cause Lynch syndrome, while biallelic loss-of-function variants cause congenital tufting enteropathy. This analysis covers 1,403 EPCAM variants and mutations. Of these, 53% have computational variant effect predictions. Disease context includes congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8, and Intestinal epithelial dysplasia. Example EPCAM variants include M1I, M1V, and A2E.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable EPCAM variants

Examples include M1I, M1V, A2E, A2V, A2T, A2S, A2A, P3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.